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PSD4 pleckstrin and Sec7 domain containing 4 [ Homo sapiens (human) ]

Gene ID: 23550, updated on 12-Aug-2018

Summary

Official Symbol
PSD4provided by HGNC
Official Full Name
pleckstrin and Sec7 domain containing 4provided by HGNC
Primary source
HGNC:HGNC:19096
See related
Ensembl:ENSG00000125637 MIM:614442; Vega:OTTHUMG00000153339
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIC; EFA6B
Expression
Ubiquitous expression in lymph node (RPKM 21.5), spleen (RPKM 20.1) and 22 other tissues See more
Orthologs

Genomic context

See PSD4 in Genome Data Viewer
Location:
2q14.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (113157399..113203229)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113914976..113960677)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1180, pseudogene Neighboring gene interleukin 1 receptor antagonist Neighboring gene uncharacterized LOC107985935 Neighboring gene paired box 8 Neighboring gene PAX8 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36237, FLJ37279

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT cleavage furrow IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
ruffle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
PH and SEC7 domain-containing protein 4
Names
ADP-ribosylation factor guanine nucleotide-exchange factor 6
SEC7 homolog
exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B
exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B
exchange factor for ARF6 B
pleckstrin homology and SEC7 domain-containing protein 4
telomeric of interleukin-1 cluster protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012455.2NP_036587.2  PH and SEC7 domain-containing protein 4

    See identical proteins and their annotated locations for NP_036587.2

    Status: VALIDATED

    Source sequence(s)
    AA429250, AJ459781, BC035307, BC073151, BM930990, BQ061445, BU947428, U63127
    Consensus CDS
    CCDS33276.1
    UniProtKB/Swiss-Prot
    Q8NDX1
    Related
    ENSP00000245796.6, OTTHUMP00000203725, ENST00000245796.10, OTTHUMT00000330789
    Conserved Domains (3) summary
    cd00171
    Location:570738
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:772900
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam00169
    Location:794892
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    113157399..113203229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263634.2XP_005263691.1  PH and SEC7 domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_005263691.1

    UniProtKB/Swiss-Prot
    Q8NDX1
    Conserved Domains (3) summary
    cd00171
    Location:570738
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:772900
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam00169
    Location:794892
    PH; PH domain
  2. XM_006712393.2XP_006712456.1  PH and SEC7 domain-containing protein 4 isoform X3

    Conserved Domains (3) summary
    cd00171
    Location:570738
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    pfam00169
    Location:794886
    PH; PH domain
    cl17171
    Location:772875
    PH-like; Pleckstrin homology-like domain
  3. XM_006712392.2XP_006712455.1  PH and SEC7 domain-containing protein 4 isoform X2

    Related
    ENSP00000413997.2, OTTHUMP00000203727, ENST00000441564.7, OTTHUMT00000330791
    Conserved Domains (3) summary
    cd00171
    Location:570738
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    cd13295
    Location:772899
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    pfam00169
    Location:794891
    PH; PH domain
  4. XM_006712394.2XP_006712457.1  PH and SEC7 domain-containing protein 4 isoform X4

    Conserved Domains (3) summary
    cd00171
    Location:570738
    Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
    pfam00169
    Location:794885
    PH; PH domain
    cl17171
    Location:772874
    PH-like; Pleckstrin homology-like domain
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